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Definition
By Mayo Clinic staffNoonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A child may be affected by Noonan syndrome in various ways: unusual facial characteristics, short stature, heart defects, other physical problems, and sometimes mental retardation.
Noonan syndrome is caused by a genetic mutation and is acquired when a child inherits a copy of an affected gene from a parent. It can also occur as a spontaneous mutation in a child, meaning there's no family history involved.
There's no specific treatment for Noonan syndrome. Management focuses on controlling the disease's symptoms and complications. Growth hormone may be used to treat short stature in some people who have Noonan syndrome.
- Noonan syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=noonansyndrome. Accessed Oct. 22, 2008.
- Learning about Noonan syndrome. National Human Genome Research Institute. http://www.genome.gov/25521674. Accessed Oct. 22, 2008.
- Allanson JE. Noonan syndrome. American Journal of Medical Genetics. 2007;145C: 274-279.
- Allanson JE. Noonan syndrome. GeneReviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=noonan. Accessed Oct. 22, 2008.
- Lin AE. Adults with genetic syndromes and cardiovascular abnormalities: Clinical history and management. Genetics in Medicine. 2008;10(7):469-494.
- DeLuca A. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. The American Journal of Human Genetics. 2005;77(6):1092-1011.
- Tullu MS. Neurofibromatosis-Noonan syndrome or LEOPARD syndrome? A clinical dilemma. Journal of Postgraduate Medicine. 2000;46(2):98-100.
- Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. Oct. 23, 2008.
